| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.249 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.249 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.249 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from MIM# 300882 Cornelia de Lange syndrome 5 to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.248 | HDAC8 | Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.247 | HDAC8 | Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.247 | HDAC8 | Zornitza Stark Classified gene: HDAC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.247 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.239 | HDAC8 |
Chloe Stutterd gene: HDAC8 was added gene: HDAC8 was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: HDAC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC8 were set to 24403048 Phenotypes for gene: HDAC8 were set to MIM# 300882 Cornelia de Lange syndrome 5 Review for gene: HDAC8 was set to GREEN gene: HDAC8 was marked as current diagnostic Added comment: PMID:24403048: 11/30 individuals with HDAC8-related CdLS identified with CHD (ASD, VSD, ToF, valve dysplasia, PDA)(Supp table). Sources: Literature, Expert list |
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